Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.140 None 1.000 0 0 2014 2019
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.120 None 1.000 0 0 2006 2010
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
nuclear receptor subfamily 3 group C member 2 0.469 0.846 0.84
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.120 None 1.000 0 0 2012 2017
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.120 None 1.000 0 0 2013 2019
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
solute carrier family 12 member 1 0.631 0.538 6.7E-17
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.110 None 1.000 0 0 2011 2011
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 771
Gene Symbol: CA12
CA12
carbonic anhydrase 12 0.592 0.731 1.3E-11
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.110 None 1.000 0 0 2015 2015
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1
potassium inwardly rectifying channel subfamily J member 1 0.619 0.577 4.6E-05
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
serine peptidase inhibitor Kazal type 5 0.604 0.654 4.8E-28
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
PLAG1 like zinc finger 1 0.566 0.769 0.98
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
propionyl-CoA carboxylase subunit beta 0.695 0.577 1.5E-08
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
propionyl-CoA carboxylase subunit alpha 0.682 0.538 3.1E-15
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 50674
Gene Symbol: NEUROG3
NEUROG3
neurogenin 3 0.647 0.500 6.0E-06
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
ATPase H+ transporting V0 subunit a4 0.722 0.385 2.2E-20
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
myosin VB 0.641 0.731 3.4E-23
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 3938
Gene Symbol: LCT
LCT
lactase 0.581 0.808 6.0E-02
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 56262
Gene Symbol: LRRC8A
LRRC8A
leucine rich repeat containing 8 VRAC subunit A 0.644 0.692 0.94
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 0.670 0.538
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 974
Gene Symbol: CD79B
CD79B
CD79b molecule 0.576 0.577 0.92
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0
Entrez Id: 973
Gene Symbol: CD79A
CD79A
CD79a molecule 0.536 0.731 0.69
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0